Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo de Congresso
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Abnormal activation of the Wint/β-catenin pathway in childhood adrenocortical tumors (ACTs)Letícia Ferro Leal Lívia Mara Mermejo; Leandra Naíra Zambelli Ramalho; Carlos Eduardo Martinelli Junior; Jose Andres Yunes; Ana Luiza Seidinger; Maria José Mastellaro; Silvia Regina Brandalise; Ayrton Custódio Moreira; Luiz Gonzaga Tone; Carlos Alberto Scrideli; Margaret de Castro; Sonir Roberto Rauber Antonini; Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) (50. 2011 Glasgow)Hormone Research in Paediatrics Basel v.76, n. suppl.2, p. 33, res. FC-121, 2011Basel 2011Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2269547 estantes deslizantes ) e outros locais(Acessar) |
2 |
Material Type: Artigo de Congresso
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Novel Mutations in the Growth Hormone Secretagogue Receptor Gene (GHSR) Associated with Constitutional Delay in Growth and Puberty (CDGP)P. N. Pugliese-Pires J.P Fortin; Y Zhu; B. B Mendonça; I. J. P Arnhold; A Kopin; A. A. L Jorge; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 1, res. 2, 2010Basel 2010Acesso online. A biblioteca também possui exemplares impressos. |
3 |
Material Type: Artigo de Congresso
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A Novel Mutation in CBX2 Gene in a Brazilian Patient with 46,XY Disorders of Sex Development (DSD) Due to Gonadal DysgenesisC. R. Gomes S Domenice; B. B Mendonça; I. J. P Arnhold; E. M. F Costa; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 6, res. 17, 2010Basel 2010Acesso online. A biblioteca também possui exemplares impressos. |
4 |
Material Type: Artigo de Congresso
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A case of Leydig cell hypoplasia associated with two distinct homozygous mutations of the human luteinizing hormone/chorionic gonadotropin receptor that include a novel mutation with unusual functional propertiesEvangelia Charmandari Meilin Zhang; Letícia Gontijo Silveira; Geiorge P Chrousos; Amalia Sertedaki; Ana Claudia Latronico Xavier; Deborah L Segaloff; European Society for Paediatric Endocrinology (ESPE)/ Joint Meeting (9. 2013 Milan, Italy)Hormone Research in Paediatrics Basel v. 80, suppl. 1, p. 44, res. FC4-164, 2013Basel 2013Localização: FM - Fac. Medicina (BCSEP 418 2013 )(Acessar) |
5 |
Material Type: Artigo de Congresso
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A homozygous NNT gene mutation identified by whole exoma sequencing (WES) in a boy with familial glucocorticoid deficiency (FGD) impairs mitochondrial oxidative stressA. Bodoni F Coeli-Lacchini; L Sobral; Ayrton Custódio Moreira; Lucila Leico Kagohara Elias; Wilson Araújo da Silva Júnior; Andréia Machado Leopoldino; Margaret de Castro; Sonir Roberto Rauber Antonini; Congress of the Latin American Society of Pediatric Endocrinology (25. 2015 Puerto Varas)Hormone Research in Paediatrics Basel v. 84, suppl. 2, p. 6, res. 001, 2015Basel 2015Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2740350 Estantes Deslizantes )(Acessar) |
6 |
Material Type: Artigo de Congresso
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Paternally inherited DLK1 deletion as novel cause of familial central precocious pubertyAndrew Dauber Luciana Ribeiro Montenegro; Berenice Bilharinho de Mendonça; Ana Claudia Latronico Xavier; Joint meeting of paediatric endocrinology (10. 2017 Washington)Hormone research in paediatrics v. 88, suppl.1, res. FC106, 2017Basel 2017Localização: FM - Fac. Medicina (BCSEP 462 2017 )(Acessar) |
7 |
Material Type: Artigo
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The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and VariantsMirian Yumie Nishi Elaine Maria Frade Costa; Suely Beirão Oliveira; Berenice Bilharinho Mendonca; Sorahia DomeniceHormone Research in Paediatrics Basel v. 75, n. 1, p. 26-31, 2011Basel 2011Acesso online. A biblioteca também possui exemplares impressos. |
8 |
Material Type: Artigo
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The Role of SRY Mutations in the Etiology of Gonadal Dysgenesis in Patients with 45,X/46,XY Disorder of Sex Development and VariantsMirian Yumie Nishi Elaine Maria Frade Costa; Suely Beirão Oliveira; Berenice Bilharinho Mendonca; Sorahia DomeniceHormone Research in Paediatrics Basel v. 75, n. 1, p. 26-31, 2011Basel 2011Acesso online. A biblioteca também possui exemplares impressos. |
9 |
Material Type: Artigo de Congresso
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Novel Mutations (p.G6R and p.R511W) in IGF1R Gene in Children Born Small for Gestational Age (SGA) Without Catch-up GrowthD. C. Coutinho A. C Leal; L. M Ribeiro; B. B Mendonça; I. J. P Arnhold; A. A. L Jorge; Annual meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP) 2010 Costa do Sauípe, Bahia, Brazil) (21.Hormone Research in Paediatrics Basel v. 74, n. suppl. 1, p. 2, res. 5, 2010Basel 2010Acesso online. A biblioteca também possui exemplares impressos. |
10 |
Material Type: Artigo de Congresso
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Seven novel mutations in steroidogenic factor-1 (SF1/NR5A1) in 46,XY DSD patientsAline Z. Machado Mariza G Santos; Sorahia Domenice; Valeria S Lando; Maria P Brandao; Miriam N Nishi; Elaine E. M. F Costa; Bruno Ferraz-de-Souza; John C Achermann; Lin Lin; Berenice B Mendonça; Annual meeting of the European Society for Pediatric Endocrinology (ESPE) 2010 Prague) (49.Hormone Research in Paediatrics Basel v. 74, n. suppl. 3, p. 113, res. P1-d3.369, 2010Basel 2010Localização: FM - Fac. Medicina (BCSEP 311 2010 )(Acessar) |